Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter MEGF6 1953 broad.mit.edu 37 1 3512012 3512012 + Splice_Site SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:3512012C>A uc001akl.2 - 3 494 c.267_splice c.e3-1 p.R89_splice NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GTAGACGGTTCTAGAAAGAAA 0.617 19 55 --- --- --- --- PASS ACOT7 11332 broad.mit.edu 37 1 6387379 6387379 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:6387379A>G uc001ams.2 - 5 792 c.635T>C c.(634-636)GTC>GCC p.V212A ACOT7_uc010nzq.1_Missense_Mutation_p.V97A|ACOT7_uc001amt.2_Missense_Mutation_p.V202A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.V161A|ACOT7_uc001amr.2_Missense_Mutation_p.V182A NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 212 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) GACTGGCTGGACGATGTCCCC 0.652 4 26 --- --- --- --- PASS RERE 473 broad.mit.edu 37 1 8684379 8684379 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:8684379T>A uc001ape.2 - 4 1196 c.386A>T c.(385-387)GAC>GTC p.D129V RERE_uc001apf.2_Missense_Mutation_p.D129V|RERE_uc001aph.1_Missense_Mutation_p.D129V NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 129 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CAGTTTGAAGTCTTGAATGCT 0.383 75 168 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12414036 12414036 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:12414036G>T uc001atv.2 + 47 9578 c.9437G>T c.(9436-9438)TGT>TTT p.C3146F VPS13D_uc001atw.2_Missense_Mutation_p.C3121F|VPS13D_uc001atx.2_Missense_Mutation_p.C2333F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3145 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CATAGGTTTTGTGTGGCTATA 0.313 30 70 --- --- --- --- PASS ARHGEF10L 55160 broad.mit.edu 37 1 17948358 17948358 + Splice_Site SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:17948358G>T uc001ban.2 + 11 1102 c.943_splice c.e11-1 p.V315_splice ARHGEF10L_uc009vpe.1_Splice_Site_p.V276_splice|ARHGEF10L_uc001bao.2_Splice_Site_p.V276_splice|ARHGEF10L_uc001bap.2_Splice_Site_p.V276_splice|ARHGEF10L_uc010ocr.1_Splice_Site_p.V73_splice|ARHGEF10L_uc001baq.2_Splice_Site_p.V81_splice|ARHGEF10L_uc010ocs.1_Splice_Site_p.V93_splice|ARHGEF10L_uc001bar.2_Splice_Site_p.V93_splice NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GGCCCGAGCAGGTGGTCCGGA 0.582 41 183 --- --- --- --- PASS RHBDL2 54933 broad.mit.edu 37 1 39384712 39384712 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:39384712G>A uc001ccu.1 - 2 401 c.173C>T c.(172-174)TCC>TTC p.S58F RHBDL2_uc010oin.1_Missense_Mutation_p.S58F|RHBDL2_uc010oio.1_Missense_Mutation_p.S138F|RHBDL2_uc001ccv.2_Missense_Mutation_p.S58F NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 58 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TGTTCCTCGGGACTTTTCGGG 0.552 72 132 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43915782 43915782 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:43915782G>A uc001cjk.1 + 56 7860 c.7398G>A c.(7396-7398)CTG>CTA p.L2466L KIAA0467_uc001cjl.1_Silent_p.L454L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3365 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGTTGTGCTGAATCAGAAGT 0.542 6 120 --- --- --- --- PASS CC2D1B 200014 broad.mit.edu 37 1 52828404 52828404 + Missense_Mutation SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:52828404C>G uc001ctq.1 - 3 222 c.84G>C c.(82-84)ATG>ATC p.M28I CC2D1B_uc001cts.2_5'Flank NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 28 ovary(2) 2 GGCCAAACTCCATAAAGAGCC 0.572 52 172 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57480937 57480937 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:57480937G>A uc001cys.1 - 14 1737 c.1063C>T c.(1063-1065)CCA>TCA p.P355S DAB1_uc001cyt.1_Missense_Mutation_p.P353S|DAB1_uc001cyq.1_Missense_Mutation_p.P353S|DAB1_uc001cyr.1_Missense_Mutation_p.P269S|DAB1_uc009vzw.1_Missense_Mutation_p.P337S|DAB1_uc009vzx.1_Missense_Mutation_p.P355S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 388 cell differentiation|nervous system development skin(2)|ovary(1) 3 GCCACAGTTGGCCAGGGCTGC 0.652 47 86 --- --- --- --- PASS CDC7 8317 broad.mit.edu 37 1 91989991 91989991 + Nonstop_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:91989991G>T uc001doe.2 + 12 1889 c.1724G>T c.(1723-1725)TGA>TTA p.*575L CDC7_uc001dof.2_Nonstop_Mutation_p.*575L|CDC7_uc010osw.1_Nonstop_Mutation_p.*547L|CDC7_uc009wdc.2_Nonstop_Mutation_p.*575L|CDC7_uc009wdd.2_Nonstop_Mutation_p.*218L NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 575 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) ATGAGCTTGTGATAATGGATC 0.328 29 112 --- --- --- --- PASS WNT2B 7482 broad.mit.edu 37 1 113059863 113059863 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:113059863C>T uc001ecb.2 + 4 1317 c.802C>T c.(802-804)CGC>TGC p.R268C WNT2B_uc001eca.2_Missense_Mutation_p.R249C|WNT2B_uc009wgg.2_Missense_Mutation_p.R176C NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 268 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTGCGGCGACGCTATGATGG 0.607 32 73 --- --- --- --- PASS GDAP2 54834 broad.mit.edu 37 1 118424471 118424471 + Missense_Mutation SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:118424471A>C uc001ehf.2 - 12 1575 c.1276T>G c.(1276-1278)TTT>GTT p.F426V GDAP2_uc001ehg.2_Missense_Mutation_p.F426V NM_017686 NP_060156 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated 426 CRAL-TRIO. ovary(2) 2 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) GGATGTACAAAATAAACAGCC 0.313 30 67 --- --- --- --- PASS LCE3A 353142 broad.mit.edu 37 1 152595351 152595351 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:152595351C>A uc010pdt.1 - 1 229 c.229G>T c.(229-231)GGG>TGG p.G77W NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 77 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAGCTCCCGCCTTGCTGA 0.557 48 79 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154033014 154033014 + Splice_Site SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:154033014A>T uc001fdw.2 - 20 2922 c.2850_splice c.e20+1 p.E950_splice NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Splice_Site_p.E950_splice NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCTAGAGCTCACCTCAACAGA 0.423 72 137 --- --- --- --- PASS GBA 2629 broad.mit.edu 37 1 155209779 155209779 + Missense_Mutation SNP T G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:155209779T>G uc001fjh.2 - 3 355 c.205A>C c.(205-207)ACC>CCC p.T69P RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Missense_Mutation_p.T69P|GBA_uc001fji.2_Missense_Mutation_p.T69P|GBA_uc001fjj.2_Missense_Mutation_p.T69P|GBA_uc001fjk.2_Missense_Mutation_p.T69P|GBA_uc001fjl.2_Missense_Mutation_p.T69P|GBA_uc010pfy.1_5'UTR|GBA_uc009wqk.1_Intron NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 69 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GCAGGAAAGGTCGGGGGGTCA 0.602 Gaucher_disease_type_I 16 32 --- --- --- --- PASS MEF2D 4209 broad.mit.edu 37 1 156450724 156450724 + Nonsense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:156450724C>A uc001fpc.2 - 4 688 c.298G>T c.(298-300)GAG>TAG p.E100* MEF2D_uc001fpb.2_Nonsense_Mutation_p.E100*|MEF2D_uc001fpd.2_Nonsense_Mutation_p.E100*|MEF2D_uc001fpe.1_Nonsense_Mutation_p.E100*|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 100 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCGTCGGGCTCGGGGCTGTCG 0.667 OREG0013874 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 117 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171753323 171753323 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:171753323G>T uc001ghz.2 + 2 944 c.597G>T c.(595-597)CAG>CAT p.Q199H METTL13_uc001gia.2_Missense_Mutation_p.Q113H|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.Q198H NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 199 methyltransferase activity|protein binding kidney(1) 1 CAGAGCCTCAGTTCTCCTTGC 0.582 55 102 --- --- --- --- PASS PTGS2 5743 broad.mit.edu 37 1 186648497 186648497 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:186648497G>A uc001gsb.2 - 2 263 c.126C>T c.(124-126)TGC>TGT p.C42C PTGS2_uc009wyo.2_5'UTR NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 42 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GGGTACAATCGCACTTATACT 0.438 5 78 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197316552 197316552 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:197316552C>A uc001gtz.2 + 4 1066 c.931C>A c.(931-933)CAC>AAC p.H311N CRB1_uc010poz.1_Missense_Mutation_p.H242N|CRB1_uc001gty.1_Missense_Mutation_p.H311N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.H311N|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 311 Extracellular (Potential).|EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AAAACCTTGTCACAATAATGC 0.408 73 138 --- --- --- --- PASS IRF6 3664 broad.mit.edu 37 1 209964185 209964185 + Nonsense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:209964185G>A uc001hhq.1 - 7 978 c.715C>T c.(715-717)CAG>TAG p.Q239* IRF6_uc010psm.1_Nonsense_Mutation_p.Q144*|IRF6_uc009xct.1_Nonsense_Mutation_p.Q239* NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 239 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GTCATGGTCTGCCCGTACTCC 0.572 HNSCC(57;0.16) 80 139 --- --- --- --- PASS INTS7 25896 broad.mit.edu 37 1 212193539 212193539 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:212193539T>C uc001hiw.1 - 3 401 c.296A>G c.(295-297)AAT>AGT p.N99S INTS7_uc009xdb.1_Missense_Mutation_p.N99S|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.N99S|INTS7_uc010pta.1_Intron NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 99 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TTCATCCACATTTAGAATCTT 0.338 34 51 --- --- --- --- PASS RPS6KC1 26750 broad.mit.edu 37 1 213414125 213414125 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:213414125C>T uc010ptr.1 + 11 1465 c.1306C>T c.(1306-1308)CCT>TCT p.P436S RPS6KC1_uc001hkd.2_Missense_Mutation_p.P424S|RPS6KC1_uc010pts.1_Missense_Mutation_p.P224S|RPS6KC1_uc010ptt.1_Missense_Mutation_p.P224S|RPS6KC1_uc010ptu.1_Missense_Mutation_p.P255S|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.P255S NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 436 Protein kinase 1. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGTGAAAAAACCTACACTTGC 0.413 90 208 --- --- --- --- PASS OR13G1 441933 broad.mit.edu 37 1 247835882 247835882 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:247835882C>A uc001idi.1 - 1 462 c.462G>T c.(460-462)TGG>TGT p.W154C NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTGTGTGCACCCAGGAATTGG 0.473 32 77 --- --- --- --- PASS COLEC11 78989 broad.mit.edu 37 2 3652013 3652013 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:3652013C>A uc002qya.2 + 2 231 c.83C>A c.(82-84)GCT>GAT p.A28D COLEC11_uc002qxz.2_Translation_Start_Site|COLEC11_uc002qyb.2_Missense_Mutation_p.A28D|COLEC11_uc002qyc.2_Missense_Mutation_p.A28D|COLEC11_uc010ewo.2_Missense_Mutation_p.A28D|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 28 collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CCTCAGCCGGCTGGCGATGAC 0.647 45 130 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15607790 15607790 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:15607790G>A uc002rcc.1 - 18 2042 c.2016C>T c.(2014-2016)TCC>TCT p.S672S NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 672 ovary(2)|liver(1)|skin(1) 4 TCATTTACTTGGAAAAGTTCA 0.328 19 48 --- --- --- --- PASS PPM1B 5495 broad.mit.edu 37 2 44428979 44428979 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:44428979G>T uc002rtt.2 + 2 1069 c.641G>T c.(640-642)GGC>GTC p.G214V PPM1B_uc002rts.2_Missense_Mutation_p.G214V|PPM1B_uc002rtu.2_Missense_Mutation_p.G214V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.G214V|PPM1B_uc002rtx.2_Missense_Mutation_p.G214V NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 214 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GATGGCAAGGGCCCAACAGAA 0.438 37 77 --- --- --- --- PASS TTC7A 57217 broad.mit.edu 37 2 47300936 47300936 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:47300936G>C uc002rvo.2 + 20 2819 c.2451G>C c.(2449-2451)CAG>CAC p.Q817H TTC7A_uc002rvm.2_Missense_Mutation_p.Q783H|TTC7A_uc010fbb.2_Missense_Mutation_p.Q841H|TTC7A_uc010fbc.2_Missense_Mutation_p.Q463H|TTC7A_uc002rvp.2_Missense_Mutation_p.Q698H|C2orf61_uc010fbd.2_Intron|TTC7A_uc002rvq.2_Missense_Mutation_p.Q557H|TTC7A_uc002rvr.2_Missense_Mutation_p.Q266H NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 817 TPR 9. binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AGGCGTGGCAGGGCCTGGGCG 0.662 45 60 --- --- --- --- PASS AFTPH 54812 broad.mit.edu 37 2 64779427 64779427 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:64779427G>T uc002sdc.2 + 1 851 c.819G>T c.(817-819)CTG>CTT p.L273L AFTPH_uc002scz.2_Silent_p.L273L|AFTPH_uc002sda.2_Silent_p.L273L|AFTPH_uc002sdb.2_Silent_p.L273L NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 273 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TCAATGAACTGAATTCTGTAA 0.348 46 77 --- --- --- --- PASS SEMA4C 54910 broad.mit.edu 37 2 97526534 97526534 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:97526534G>A uc002sxh.3 - 15 2491 c.2331C>T c.(2329-2331)CAC>CAT p.H777H ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Silent_p.H277H|SEMA4C_uc002sxe.2_Silent_p.H318H|SEMA4C_uc002sxg.3_Silent_p.H830H NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 777 Cytoplasmic (Potential). muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 CACCCCCCAGGTGAAGCCGAG 0.677 48 145 --- --- --- --- PASS SEMA4C 54910 broad.mit.edu 37 2 97526535 97526535 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:97526535T>A uc002sxh.3 - 15 2490 c.2330A>T c.(2329-2331)CAC>CTC p.H777L ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Missense_Mutation_p.H277L|SEMA4C_uc002sxe.2_Missense_Mutation_p.H318L|SEMA4C_uc002sxg.3_Missense_Mutation_p.H830L NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 777 Cytoplasmic (Potential). muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 ACCCCCCAGGTGAAGCCGAGT 0.672 49 137 --- --- --- --- PASS BUB1 699 broad.mit.edu 37 2 111411055 111411055 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:111411055C>A uc002tgc.2 - 17 2034 c.1922G>T c.(1921-1923)TGT>TTT p.C641F BUB1_uc010yxh.1_Missense_Mutation_p.C621F|BUB1_uc010fkb.2_Missense_Mutation_p.C641F NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 641 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GTTTTCCTCACAAGAATCCAA 0.383 40 86 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116593753 116593753 + Silent SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:116593753A>T uc002tla.1 + 22 2428 c.1971A>T c.(1969-1971)GCA>GCT p.A657A DPP10_uc002tlb.1_Silent_p.A607A|DPP10_uc002tlc.1_Silent_p.A653A|DPP10_uc002tle.2_Silent_p.A661A|DPP10_uc002tlf.1_Silent_p.A650A NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 657 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GCTATATTGCATCAATGATCT 0.269 22 36 --- --- --- --- PASS RALB 5899 broad.mit.edu 37 2 121043651 121043651 + Missense_Mutation SNP G A A rs139389446 TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:121043651G>A uc002tmk.2 + 3 506 c.316G>A c.(316-318)GAA>AAA p.E106K RALB_uc010yys.1_Missense_Mutation_p.E128K|RALB_uc002tml.2_Missense_Mutation_p.E127K|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 106 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) AGCAACTGCCGAATTCAGGTA 0.443 5 110 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141055406 141055406 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:141055406G>T uc002tvj.1 - 84 13910 c.12938C>A c.(12937-12939)CCG>CAG p.P4313Q NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4313 Extracellular (Potential).|EGF-like 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTGTATTCCGGCTGGCAGTG 0.448 TSP Lung(27;0.18) 127 315 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467190 164467190 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:164467190G>A uc002uck.1 - 3 1463 c.1152C>T c.(1150-1152)TCC>TCT p.S384S NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 384 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 GCTGTTCAGAGGACATTAGCT 0.458 41 89 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170094609 170094609 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:170094609T>C uc002ues.2 - 27 4711 c.4498A>G c.(4498-4500)AGA>GGA p.R1500G NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1500 LDL-receptor class B 10.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCACTCTTCTGTCCGTTCCA 0.438 32 84 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801543 185801543 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:185801543G>A uc002uph.2 + 4 2014 c.1420G>A c.(1420-1422)GAT>AAT p.D474N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 474 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TAATAATCTAGATAAAAATAA 0.343 59 139 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185803089 185803089 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:185803089C>A uc002uph.2 + 4 3560 c.2966C>A c.(2965-2967)ACT>AAT p.T989N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 989 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAGACACCAACTGAGTGGCTG 0.413 59 127 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212285214 212285214 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:212285214G>A uc002veg.1 - 25 3185 c.3087C>T c.(3085-3087)AAC>AAT p.N1029N ERBB4_uc002veh.1_Silent_p.N1029N|ERBB4_uc010zji.1_Silent_p.N1019N|ERBB4_uc010zjj.1_Silent_p.N1019N NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1029 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAGGTGGGATGTTGAAAGCCT 0.383 TSP Lung(8;0.080) 19 71 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227876905 227876905 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:227876905C>A uc010zlt.1 - 44 4979 c.4325G>T c.(4324-4326)GGA>GTA p.G1442V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1442 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCTGGTCCTCCAGGGTAGCC 0.542 29 52 --- --- --- --- PASS CCL20 6364 broad.mit.edu 37 2 228678678 228678678 + Silent SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:228678678A>C uc002vpl.2 + 1 121 c.51A>C c.(49-51)CTA>CTC p.L17L CCL20_uc002vpm.2_Silent_p.L17L NM_004591 NP_004582 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 isoform 1 17 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity 0 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) CAGTGCTGCTACTCCACCTCT 0.468 67 158 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234858695 234858695 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr2:234858695C>A uc002vvh.2 + 9 1085 c.1045C>A c.(1045-1047)CTG>ATG p.L349M TRPM8_uc010fyj.2_Missense_Mutation_p.L37M NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 349 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GGAGGATGCCCTGACATCTTC 0.542 22 55 --- --- --- --- PASS TTC21A 199223 broad.mit.edu 37 3 39169890 39169890 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:39169890C>T uc003cjc.2 + 13 1789 c.1612C>T c.(1612-1614)CAT>TAT p.H538Y TTC21A_uc003cje.2_Missense_Mutation_p.H539Y|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.H490Y NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 538 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CGTGGATGCCCATCTCCTCAT 0.552 51 46 --- --- --- --- PASS EIF4E3 317649 broad.mit.edu 37 3 71745664 71745664 + Nonsense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:71745664C>A uc003dov.3 - 4 360 c.352G>T c.(352-354)GAG>TAG p.E118* EIF4E3_uc011bgc.1_Nonsense_Mutation_p.E12*|EIF4E3_uc003dox.2_Nonsense_Mutation_p.E12*|EIF4E3_uc011bgd.1_Nonsense_Mutation_p.E12*|EIF4E3_uc010hoc.2_Nonsense_Mutation_p.E12* NM_001134651 NP_001128123 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E 118 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) GCATTACTCTCCTCTTCCCTG 0.438 63 48 --- --- --- --- PASS C3orf38 285237 broad.mit.edu 37 3 88205447 88205447 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:88205447G>T uc003dqw.2 + 4 963 c.652G>T c.(652-654)GAT>TAT p.D218Y NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 218 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) CCCCAACCTAGATTCACATGG 0.433 79 86 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89480438 89480438 + Missense_Mutation SNP G T T rs146856660 TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:89480438G>T uc003dqy.2 + 13 2500 c.2275G>T c.(2275-2277)GTG>TTG p.V759L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 759 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAGTAACTTGGTGTGTAAGGT 0.458 TSP Lung(6;0.00050) 26 30 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96706702 96706702 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:96706702C>T uc010how.1 + 3 1022 c.979C>T c.(979-981)CGG>TGG p.R327W EPHA6_uc003drp.1_Missense_Mutation_p.R327W NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 232 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GGTTGAAGTACGGGGTTCTTG 0.478 89 528 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100961722 100961722 + Silent SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:100961722C>A uc003duq.1 - 14 3035 c.2832G>T c.(2830-2832)ACG>ACT p.T944T IMPG2_uc011bhe.1_Silent_p.T807T NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 944 Extracellular (Potential).|SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TCTGGAACCCCGTGAGATTTG 0.408 163 114 --- --- --- --- PASS ABHD10 55347 broad.mit.edu 37 3 111705116 111705116 + Missense_Mutation SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:111705116A>T uc003dyk.3 + 3 413 c.332A>T c.(331-333)GAT>GTT p.D111V ABHD10_uc011bhq.1_5'UTR NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 111 mitochondrion serine-type peptidase activity 0 TCCAGGTTTGATTACTCAGGA 0.343 70 73 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111983116 111983116 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:111983116G>A uc003dyu.2 - 9 1175 c.953C>T c.(952-954)ACA>ATA p.T318I SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Intron NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 318 Helical; (Potential). cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATACAAATATGTATGTGCAGG 0.249 6 44 --- --- --- --- PASS FBXO40 51725 broad.mit.edu 37 3 121340300 121340300 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:121340300G>T uc003eeg.2 + 3 234 c.24G>T c.(22-24)CCG>CCT p.P8P NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 8 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GCAGATCCCCGCCAGGGCACC 0.532 138 240 --- --- --- --- PASS NCK1 4690 broad.mit.edu 37 3 136665037 136665037 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:136665037A>G uc003erh.2 + 3 946 c.839A>G c.(838-840)AAT>AGT p.N280S NCK1_uc011bme.1_Missense_Mutation_p.N216S NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 280 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 TTTGCTGGCAATCCTTGGTAT 0.423 109 522 --- --- --- --- PASS WWTR1 25937 broad.mit.edu 37 3 149374963 149374963 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:149374963C>A uc003exe.2 - 1 147 c.131G>T c.(130-132)CGG>CTG p.R44L WWTR1_uc003exf.2_Missense_Mutation_p.R44L|WWTR1_uc011bns.1_Missense_Mutation_p.R44L|WWTR1_uc003exh.2_Missense_Mutation_p.R44L|uc010hvg.1_RNA|uc003exi.1_5'Flank NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 44 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GATCTTCTTCCGCCACGAGCT 0.627 11 35 --- --- --- --- PASS OTOL1 131149 broad.mit.edu 37 3 161221714 161221714 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:161221714C>A uc011bpb.1 + 4 1418 c.1418C>A c.(1417-1419)TCT>TAT p.S473Y NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 473 C1q. collagen 0 GAGGAAACTTCTGGAATTTCA 0.388 22 73 --- --- --- --- PASS KCNMB3 27094 broad.mit.edu 37 3 178968856 178968856 + Missense_Mutation SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:178968856A>C uc003fjm.2 - 1 548 c.36T>G c.(34-36)CAT>CAG p.H12Q KCNMB3_uc003fjl.3_Intron|KCNMB3_uc011bqc.1_Intron|KCNMB3_uc003fjn.2_5'UTR|KCNMB3_uc003fjo.2_Intron|KCNMB3_uc003fjp.1_Intron NM_014407 NP_055222 Q9NPA1 KCMB3_HUMAN calcium-activated potassium channel beta 3 12 Cytoplasmic (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity 0 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) ATGCAACAAAATGAAATCCCA 0.398 41 302 --- --- --- --- PASS LAMP3 27074 broad.mit.edu 37 3 182871775 182871775 + Missense_Mutation SNP C T T rs150380664 byFrequency TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:182871775C>T uc003flh.3 - 2 678 c.454G>A c.(454-456)GTC>ATC p.V152I NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 152 Lumenal (Potential).|Thr-rich. cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GTGTGGCTGACGGTTGATGAA 0.522 54 664 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 193029676 193029676 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:193029676A>G uc011bsq.1 - 20 2374 c.2374T>C c.(2374-2376)TGT>CGT p.C792R NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 792 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAATGGTAACAGCTTCCTCCT 0.393 30 301 --- --- --- --- PASS IQCG 84223 broad.mit.edu 37 3 197665624 197665624 + Missense_Mutation SNP T G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr3:197665624T>G uc003fyo.2 - 4 456 c.310A>C c.(310-312)ACG>CCG p.T104P IQCG_uc003fyn.2_Missense_Mutation_p.T6P|IQCG_uc003fyp.2_Missense_Mutation_p.T104P|IQCG_uc003fyq.3_Missense_Mutation_p.T104P NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 104 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TCTAGATTCGTTCCTTCTAGA 0.358 46 842 --- --- --- --- PASS KIAA1530 57654 broad.mit.edu 37 4 1379710 1379710 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:1379710C>T uc003gde.3 + 14 2538 c.2091C>T c.(2089-2091)CAC>CAT p.H697H KIAA1530_uc010ibv.2_Silent_p.H248H NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 697 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) AGAAGAAGCACGAGAAGTTTT 0.572 30 47 --- --- --- --- PASS NOP14 8602 broad.mit.edu 37 4 2944035 2944035 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:2944035C>T uc003ggj.1 - 14 2007 c.1935G>A c.(1933-1935)TCG>TCA p.S645S C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.S391S|NOP14_uc003ggk.3_Silent_p.S645S|NOP14_uc003ggl.2_Silent_p.S645S NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 645 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 CGAGCAGTTCCGAGTTCTTCC 0.592 29 44 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5578063 5578063 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:5578063T>C uc003gij.2 - 18 3230 c.3176A>G c.(3175-3177)AAC>AGC p.N1059S EVC2_uc011bwb.1_Missense_Mutation_p.N499S|EVC2_uc003gik.2_Missense_Mutation_p.N979S NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1059 Potential. integral to membrane large_intestine(3)|ovary(2) 5 CCCAGGTTCGTTCAGAATCCC 0.612 40 41 --- --- --- --- PASS RHOH 399 broad.mit.edu 37 4 40245100 40245100 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:40245100G>A uc003guz.2 + 3 818 c.94G>A c.(94-96)GCC>ACC p.A32T NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 32 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 CTTCCCGGAGGCCTACAAGCC 0.587 32 73 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47556863 47556863 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:47556863G>A uc003gxk.1 + 11 1920 c.1756G>A c.(1756-1758)GAC>AAC p.D586N ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 586 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GTACATTATCGACTTTTTCAT 0.413 48 147 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126238160 126238160 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:126238160G>T uc003ifj.3 + 1 594 c.594G>T c.(592-594)GCG>GCT p.A198A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 198 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCGAGGGAGCGTTCCTGCATC 0.652 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 39 --- --- --- --- PASS SLC10A7 84068 broad.mit.edu 37 4 147442805 147442805 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:147442805C>A uc010ioz.2 - 1 319 c.65G>T c.(64-66)GGA>GTA p.G22V SLC10A7_uc003ikr.2_Missense_Mutation_p.G22V|SLC10A7_uc010ipa.2_Missense_Mutation_p.G22V|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.G22V|SLC10A7_uc003iku.3_RNA NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 22 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) CAGTTTAGCTCCAGCGATCGC 0.522 70 163 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159493927 159493927 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:159493927C>A uc003ipz.2 + 2 209 c.127C>A c.(127-129)CAG>AAG p.Q43K RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.Q43K|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.Q43K|RXFP1_uc010iqm.2_Missense_Mutation_p.Q43K|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 43 Extracellular (Potential).|LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GTGCTTGCCTCAGCTCCTGCA 0.552 69 150 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162577607 162577607 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:162577607C>A uc003iqh.2 - 7 1203 c.767G>T c.(766-768)AGC>ATC p.S256I FSTL5_uc003iqi.2_Missense_Mutation_p.S255I|FSTL5_uc010iqv.2_Missense_Mutation_p.S255I NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 256 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGCAGTGATGCTTAGTTTCTG 0.403 27 64 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176594881 176594881 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:176594881G>T uc003iuf.2 - 3 1141 c.337C>A c.(337-339)CTC>ATC p.L113I GPM6A_uc011ckj.1_Missense_Mutation_p.L106I|GPM6A_uc003iug.2_Missense_Mutation_p.L113I|GPM6A_uc003iuh.2_Missense_Mutation_p.L102I NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 113 Cytoplasmic (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TCCCCATAGAGATCTTTGATG 0.423 26 74 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183664378 183664378 + Silent SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr4:183664378C>A uc003ivd.1 + 18 3472 c.3435C>A c.(3433-3435)GTC>GTA p.V1145V ODZ3_uc003ive.1_Silent_p.V551V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1145 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGCCTCCAGTCGTGAGTAGCA 0.483 20 61 --- --- --- --- PASS TERT 7015 broad.mit.edu 37 5 1278882 1278882 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr5:1278882G>T uc003jcb.1 - 6 2218 c.2160C>A c.(2158-2160)ATC>ATA p.I720I TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Silent_p.I720I|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 720 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGTCCTGGGGGATGGTGTCGT 0.627 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 99 309 --- --- --- --- PASS FBXL7 23194 broad.mit.edu 37 5 15937167 15937167 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr5:15937167G>A uc003jfn.1 + 4 1829 c.1348G>A c.(1348-1350)GCC>ACC p.A450T NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 450 LRR 11. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GCAGATCGTGGCCGCCAACTG 0.627 32 47 --- --- --- --- PASS ISL1 3670 broad.mit.edu 37 5 50680535 50680535 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr5:50680535G>A uc003jor.2 + 2 737 c.189G>A c.(187-189)GGG>GGA p.G63G uc003joq.1_5'Flank NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 63 LIM zinc-binding 1. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) TTAGGGATGGGAAAACCTACT 0.398 71 239 --- --- --- --- PASS ISL1 3670 broad.mit.edu 37 5 50683365 50683365 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr5:50683365G>C uc003jor.2 + 3 808 c.260G>C c.(259-261)AGC>ACC p.S87T NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 87 LIM zinc-binding 2. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) ATCGGCTTCAGCAAGAACGAC 0.612 9 33 --- --- --- --- PASS CLINT1 9685 broad.mit.edu 37 5 157218922 157218922 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr5:157218922C>T uc003lxj.1 - 10 1359 c.1169G>A c.(1168-1170)GGC>GAC p.G390D CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Missense_Mutation_p.G372D|CLINT1_uc011ddv.1_Missense_Mutation_p.G390D NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 390 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAAGAACTCGCCACTGGAAGC 0.517 29 32 --- --- --- --- PASS HMMR 3161 broad.mit.edu 37 5 162917423 162917423 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr5:162917423G>T uc003lzf.2 + 17 2169 c.1987G>T c.(1987-1989)GCT>TCT p.A663S HMMR_uc003lzh.2_Missense_Mutation_p.A664S|HMMR_uc003lzg.2_Missense_Mutation_p.A648S|HMMR_uc011dem.1_Missense_Mutation_p.A577S|uc003lzi.2_Intron NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 663 Hyaluronic acid-binding (Potential). cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) CTGTCAGCTTGCTAAAAAAAA 0.313 36 43 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12161866 12161866 + Missense_Mutation SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:12161866A>T uc003nac.2 + 8 6861 c.6682A>T c.(6682-6684)ACT>TCT p.T2228S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2228 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CCCTGTGAGTACTGACGAGGA 0.567 17 64 --- --- --- --- PASS HIST1H1C 3006 broad.mit.edu 37 6 26056216 26056216 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:26056216C>T uc003nfw.2 - 1 484 c.441G>A c.(439-441)CCG>CCA p.P147P NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 147 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CGCTCTTCTTCGGAGTTGCGC 0.572 52 125 --- --- --- --- PASS NKAPL 222698 broad.mit.edu 37 6 28227222 28227222 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:28227222G>T uc003nkt.2 + 1 125 c.73G>T c.(73-75)GGG>TGG p.G25W ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 25 upper_aerodigestive_tract(1)|ovary(1) 2 CAGCTCCTCGGGGAGCCCACC 0.662 35 65 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29595348 29595348 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:29595348G>C uc003nmt.3 - 6 908 c.572C>G c.(571-573)GCG>GGG p.A191G GABBR1_uc003nmp.3_Missense_Mutation_p.A74G|GABBR1_uc003nms.3_Missense_Mutation_p.A74G|GABBR1_uc003nmu.3_Missense_Mutation_p.A129G|GABBR1_uc011dlr.1_Missense_Mutation_p.A14G|GABBR1_uc011dls.1_Missense_Mutation_p.A191G NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 191 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) CATCTCCACCGCGGGCTGGCA 0.672 6 13 --- --- --- --- PASS HLA-DMB 3109 broad.mit.edu 37 6 32905205 32905205 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:32905205G>T uc003ocl.1 - 3 599 c.366C>A c.(364-366)ACC>ACA p.T122T HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'UTR|HLA-DMB_uc010jue.1_5'UTR|HLA-DMB_uc010juf.1_5'UTR|HLA-DMB_uc011dql.1_Silent_p.T122T NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 122 Lumenal (Potential).|Ig-like C1-type.|Beta-2. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 TAAAAGGAGTGGTTTTGGCTA 0.507 57 135 --- --- --- --- PASS LHFPL5 222662 broad.mit.edu 37 6 35782540 35782540 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:35782540C>A uc003olg.1 + 2 1007 c.630C>A c.(628-630)GAC>GAA p.D210E NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 210 integral to membrane skin(1) 1 TCCCTGACGACTACAAGGCAG 0.597 18 27 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49696509 49696509 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:49696509G>A uc003ozs.2 - 8 687 c.672C>T c.(670-672)ACC>ACT p.T224T NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 224 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GATGTTTACAGGTTAATGTGA 0.378 34 176 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76734920 76734920 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:76734920T>A uc003pik.1 - 5 683 c.553A>T c.(553-555)ATT>TTT p.I185F NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 185 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTGTTGAAATGACAATGGTT 0.323 48 107 --- --- --- --- PASS CYB5R4 51167 broad.mit.edu 37 6 84650271 84650271 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:84650271G>T uc003pkf.2 + 14 1429 c.1297G>T c.(1297-1299)GAT>TAT p.D433Y NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 433 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) AACAGAAGATGATATAATTTG 0.274 22 73 --- --- --- --- PASS SLC35F1 222553 broad.mit.edu 37 6 118596691 118596691 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:118596691G>T uc003pxx.3 + 5 908 c.707G>T c.(706-708)TGG>TTG p.W236L SLC35F1_uc003pxy.1_Missense_Mutation_p.W41L NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 236 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) TCTAACGTCTGGGAAGAATAC 0.438 26 102 --- --- --- --- PASS MYB 4602 broad.mit.edu 37 6 135511481 135511481 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:135511481G>A uc003qfc.2 + 5 722 c.523G>A c.(523-525)GGA>AGA p.G175R MYB_uc003qfh.2_Missense_Mutation_p.G175R|MYB_uc003qfi.2_Missense_Mutation_p.G175R|MYB_uc010kgi.2_Missense_Mutation_p.G175R|MYB_uc003qfq.2_Missense_Mutation_p.G175R|MYB_uc010kgj.2_Missense_Mutation_p.G175R|MYB_uc003qfo.2_Missense_Mutation_p.G175R|MYB_uc003qfu.2_Missense_Mutation_p.G175R|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Intron|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Intron|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G175R|MYB_uc003qgd.1_5'UTR NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 175 H-T-H motif (By similarity).|HTH myb-type 3.|Interaction with HIPK2 and NLK (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GCTACTGCCTGGACGGTAATA 0.388 T NFIB adenoid cystic carcinoma 11 38 --- --- --- --- PASS MTHFD1L 25902 broad.mit.edu 37 6 151293098 151293098 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:151293098G>C uc003qob.2 + 20 2297 c.2029G>C c.(2029-2031)GTG>CTG p.V677L MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.V678L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.V625L NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 677 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCTGTGTTCGTGCATGCGGG 0.448 65 144 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151917692 151917692 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:151917692G>A uc003qol.2 + 9 1779 c.1690G>A c.(1690-1692)GCC>ACC p.A564T NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 564 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGCCAAACTGGCCGACACCAA 0.468 36 65 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166572066 166572066 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:166572066T>A uc003quu.1 - 9 1538 c.1045A>T c.(1045-1047)AGC>TGC p.S349C T_uc003qut.1_Missense_Mutation_p.S350C|T_uc003quv.1_Missense_Mutation_p.S291C NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 349 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GACCACAGGCTGGGGTACTGA 0.652 Chordoma_Familial_Clustering_of 5 13 --- --- --- --- PASS FAM120B 84498 broad.mit.edu 37 6 170628197 170628197 + Missense_Mutation SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr6:170628197C>G uc003qxp.2 + 2 1827 c.1719C>G c.(1717-1719)GAC>GAG p.D573E FAM120B_uc003qxo.1_Missense_Mutation_p.D573E|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 573 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TGGTTTCAGACACTGAAATCT 0.403 34 72 --- --- --- --- PASS FAM20C 56975 broad.mit.edu 37 7 208896 208896 + Splice_Site SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:208896A>C uc003sip.2 + 3 1016 c.785_splice c.e3-2 p.A262_splice NM_020223 NP_064608 Q8IXL6 DMP4_HUMAN family with sequence similarity 20, member C extracellular region 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14) TCCTTCCTGCAGCCATGAAGT 0.597 3 5 --- --- --- --- PASS MICALL2 79778 broad.mit.edu 37 7 1477944 1477944 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:1477944G>A uc003skj.3 - 11 2315 c.2168C>T c.(2167-2169)ACG>ATG p.T723M MICALL2_uc003skh.3_Translation_Start_Site|MICALL2_uc003ski.3_Missense_Mutation_p.T210M NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 723 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGAGGTCACCGTCTCGCCAGG 0.697 3 21 --- --- --- --- PASS HOXA4 3201 broad.mit.edu 37 7 27170284 27170284 + Nonsense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:27170284G>T uc003sym.3 - 1 116 c.69C>A c.(67-69)TAC>TAA p.Y23* NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 23 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TGTGCTGCGCGTACTCCTCGA 0.488 6 17 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378243 31378243 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:31378243G>C uc003tch.2 - 2 993 c.640C>G c.(640-642)CCT>GCT p.P214A NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 214 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GTGAGCTCAGGGCTGTGGTAG 0.527 51 136 --- --- --- --- PASS SUN3 256979 broad.mit.edu 37 7 48028393 48028393 + Missense_Mutation SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:48028393C>G uc003tof.2 - 10 1043 c.946G>C c.(946-948)GAA>CAA p.E316Q SUN3_uc010kyq.2_Missense_Mutation_p.E228Q|SUN3_uc003tog.2_Missense_Mutation_p.E316Q|SUN3_uc011kcf.1_Missense_Mutation_p.E304Q NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 316 SUN. integral to membrane central_nervous_system(1) 1 ACCTGGAGTTCAAATGTTTGA 0.358 14 106 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77789561 77789561 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:77789561G>A uc003ugx.2 - 16 2880 c.2626C>T c.(2626-2628)CCA>TCA p.P876S MAGI2_uc003ugy.2_Missense_Mutation_p.P862S|MAGI2_uc010ldx.1_Missense_Mutation_p.P469S NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 876 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACAGAGCCTGGACTTCTCCCG 0.493 40 76 --- --- --- --- PASS ZC3HAV1 56829 broad.mit.edu 37 7 138764222 138764222 + Missense_Mutation SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:138764222C>G uc003vun.2 - 4 1853 c.1465G>C c.(1465-1467)GTT>CTT p.V489L ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.V489L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 489 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TTACCGTTAACAAGTGCTACT 0.438 24 95 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142612065 142612065 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:142612065T>C uc003wby.1 - 11 1702 c.1438A>G c.(1438-1440)ATC>GTC p.I480V NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 480 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TGGATCATGATGGTGAAGGGA 0.552 27 91 --- --- --- --- PASS NOS3 4846 broad.mit.edu 37 7 150697679 150697679 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:150697679A>G uc003wif.2 + 10 1521 c.1225A>G c.(1225-1227)AGT>GGT p.S409G NOS3_uc011kuy.1_Missense_Mutation_p.S203G|NOS3_uc011kuz.1_Missense_Mutation_p.S409G|NOS3_uc011kva.1_Missense_Mutation_p.S409G|NOS3_uc011kvb.1_Missense_Mutation_p.S409G NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 409 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CGTGCTGCACAGTTACCAGGT 0.607 17 32 --- --- --- --- PASS ACCN3 9311 broad.mit.edu 37 7 150746188 150746188 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:150746188C>A uc003win.2 + 1 584 c.216C>A c.(214-216)CAC>CAA p.H72Q ACCN3_uc003wio.2_Missense_Mutation_p.H72Q|ACCN3_uc003wip.2_Missense_Mutation_p.H72Q|ACCN3_uc003wiq.2_RNA NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 72 Extracellular (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTTCCACCACCAGACTGCCC 0.657 38 100 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151893021 151893021 + Missense_Mutation SNP T C C rs146504747 by1000genomes TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr7:151893021T>C uc003wla.2 - 28 4568 c.4349A>G c.(4348-4350)GAT>GGT p.D1450G MLL3_uc003wkz.2_Missense_Mutation_p.D511G NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1450 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGCTAGATCATCTGAAATTAT 0.333 N medulloblastoma 22 51 --- --- --- --- PASS HMBOX1 79618 broad.mit.edu 37 8 28827926 28827926 + Silent SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:28827926A>G uc003xhd.3 + 3 732 c.390A>G c.(388-390)GGA>GGG p.G130G HMBOX1_uc010lvd.2_Silent_p.G130G|HMBOX1_uc003xhc.3_Silent_p.G130G|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Silent_p.G130G|HMBOX1_uc011lay.1_Silent_p.G130G|HMBOX1_uc003xhf.2_Silent_p.G118G|HMBOX1_uc003xhg.2_Silent_p.G118G NM_001135726 NP_001129198 Q6NT76 HMBX1_HUMAN homeobox containing 1 130 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) CATCCAATGGAAAGATGTCAC 0.453 41 87 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39606952 39606952 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:39606952C>T uc003xnj.2 - 18 1968 c.1893G>A c.(1891-1893)AAG>AAA p.K631K ADAM2_uc003xnk.2_Silent_p.K612K|ADAM2_uc011lck.1_Silent_p.K568K|ADAM2_uc003xnl.2_Silent_p.K475K NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 631 Extracellular (Potential).|EGF-like. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AGTGACAGTGCTTTTTGTTAT 0.348 81 171 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55537767 55537767 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:55537767C>A uc003xsd.1 + 4 1473 c.1325C>A c.(1324-1326)GCA>GAA p.A442E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 442 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAAGACCAAGCAAAGCATCGT 0.433 34 77 --- --- --- --- PASS ADHFE1 137872 broad.mit.edu 37 8 67357485 67357485 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:67357485G>T uc003xwb.3 + 6 420 c.386G>T c.(385-387)GGA>GTA p.G129V ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.G81V|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.G59V|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 129 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCCCAAAAGGGAGCTTTTGAT 0.408 55 120 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113657367 113657367 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:113657367G>T uc003ynu.2 - 20 3440 c.3281C>A c.(3280-3282)ACA>AAA p.T1094K CSMD3_uc003yns.2_Missense_Mutation_p.T366K|CSMD3_uc003ynt.2_Missense_Mutation_p.T1054K|CSMD3_uc011lhx.1_Missense_Mutation_p.T990K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1094 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AACAGTCCATGTACAATTCAG 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 73 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143559650 143559650 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:143559650C>A uc003ywm.2 + 6 1673 c.1490C>A c.(1489-1491)CCT>CAT p.P497H NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 497 Extracellular (Potential).|TSP type-1 4. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGCAACGGGCCTTCCTACGGG 0.692 5 26 --- --- --- --- PASS DMRT1 1761 broad.mit.edu 37 9 916890 916890 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr9:916890C>T uc003zgv.2 + 4 1099 c.950C>T c.(949-951)CCG>CTG p.P317L NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 317 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) CCCTCTTACCCGGAAGCCAGG 0.547 38 39 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90500146 90500146 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr9:90500146G>A uc004app.3 + 4 779 c.744G>A c.(742-744)CCG>CCA p.P248P C9orf79_uc004apo.1_Silent_p.P60P NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 248 Pro-rich. integral to membrane ovary(3) 3 CACCACAGCCGCATGGTCCCC 0.627 32 183 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104316311 104316311 + Missense_Mutation SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr9:104316311A>T uc004bbn.2 + 14 2033 c.1943A>T c.(1942-1944)GAT>GTT p.D648V NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 648 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CTATTGCTGGATATGTACCGT 0.448 66 76 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73491830 73491830 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr10:73491830G>A uc001jrx.3 + 31 4179 c.3802G>A c.(3802-3804)GTG>ATG p.V1268M CDH23_uc001jrz.2_Missense_Mutation_p.V884M|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.V76M NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1268 Cadherin 12.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 TATCATCACCGTGAATTACCT 0.567 4 59 --- --- --- --- PASS FGFR2 2263 broad.mit.edu 37 10 123279562 123279562 + Missense_Mutation SNP C G G rs121918499 TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr10:123279562C>G uc010qtk.1 - 7 1517 c.870G>C c.(868-870)TGG>TGC p.W290C FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.W175C|FGFR2_uc010qti.1_Missense_Mutation_p.W201C|FGFR2_uc010qtj.1_Missense_Mutation_p.W290C|FGFR2_uc010qtl.1_Missense_Mutation_p.W290C|FGFR2_uc010qtm.1_Missense_Mutation_p.W175C|FGFR2_uc001lfl.3_Missense_Mutation_p.W290C|FGFR2_uc001lfm.2_Missense_Mutation_p.W201C|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.W309C|FGFR2_uc010qto.1_Missense_Mutation_p.W194C|FGFR2_uc001lfo.1_Missense_Mutation_p.W309C|FGFR2_uc010qtp.1_Missense_Mutation_p.W309C|FGFR2_uc001lfg.3_5'Flank NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 290 Ig-like C2-type 3.|Extracellular (Potential). W -> R (in CS).|W -> C (in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation).|W -> G (in CS). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.W290C(2) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CGTGCTTGATCCACTGGATGT 0.552 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 30 48 --- --- --- --- PASS PAOX 196743 broad.mit.edu 37 10 135204850 135204850 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr10:135204850G>A uc001lmv.2 + 7 1507 c.1427G>A c.(1426-1428)CGC>CAC p.R476H PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.S423S|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 614 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GCCACACATCGCACGTTTTAC 0.622 68 85 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1026120 1026120 + Nonsense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:1026120C>T uc001lsw.2 - 21 2619 c.2568G>A c.(2566-2568)TGG>TGA p.W856* NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 856 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGACAGGCCCACCTCCCCC 0.662 3 10 --- --- --- --- PASS AMBRA1 55626 broad.mit.edu 37 11 46419148 46419148 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:46419148G>T uc010rgu.1 - 18 4109 c.3749C>A c.(3748-3750)TCT>TAT p.S1250Y AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.S1221Y|AMBRA1_uc001ncu.1_Missense_Mutation_p.S1160Y|AMBRA1_uc001ncv.2_Missense_Mutation_p.S1253Y|AMBRA1_uc001ncw.2_Missense_Mutation_p.S1131Y|AMBRA1_uc001ncx.2_Missense_Mutation_p.S1190Y NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 1250 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AGGGGAGGAAGAGGGCAGGGT 0.647 21 54 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 56000488 56000488 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:56000488G>A uc010rjc.1 - 1 174 c.174C>T c.(172-174)GAC>GAT p.D58D NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 58 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTTCAAGATTGTCTGTGAAGC 0.358 12 93 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57087823 57087823 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:57087823G>A uc001njr.2 - 2 770 c.458C>T c.(457-459)TCA>TTA p.S153L TNKS1BP1_uc001njs.2_Missense_Mutation_p.S153L|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 153 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GAAGCGCTCTGAGGCTGGGCG 0.682 52 119 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62287531 62287531 + Silent SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:62287531G>C uc001ntl.2 - 5 14658 c.14358C>G c.(14356-14358)CCC>CCG p.P4786P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4786 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGCTGAATTTGGGCATTTTCA 0.537 111 336 --- --- --- --- PASS SNX32 254122 broad.mit.edu 37 11 65620388 65620388 + Missense_Mutation SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:65620388A>C uc001ofr.2 + 12 1244 c.1117A>C c.(1117-1119)AAT>CAT p.N373H NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 373 cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) TTTTCGAAAGAATCTCATTGA 0.622 63 129 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107288983 107288983 + Silent SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:107288983C>A uc010rvp.1 - 9 1494 c.1464G>T c.(1462-1464)CTG>CTT p.L488L CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 488 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CATCAACACTCAGGATGTGAA 0.388 45 111 --- --- --- --- PASS BCL9L 283149 broad.mit.edu 37 11 118772546 118772546 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr11:118772546C>T uc001pug.2 - 6 2871 c.1906G>A c.(1906-1908)GGC>AGC p.G636S BCL9L_uc009zal.2_Missense_Mutation_p.G631S NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 636 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CAGCCCATGCCTGGTCTCACG 0.607 25 46 --- --- --- --- PASS CCND2 894 broad.mit.edu 37 12 4385368 4385368 + Silent SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:4385368C>A uc001qmo.2 + 2 698 c.393C>A c.(391-393)ATC>ATA p.I131I NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 131 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding p.I131M(1) haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) ACAACTCCATCAAGCCTCAGG 0.567 T IGL@ NHL,CLL 3 38 --- --- --- --- PASS IFFO1 25900 broad.mit.edu 37 12 6658975 6658975 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:6658975G>A uc001qpd.1 - 4 1052 c.1018C>T c.(1018-1020)CTC>TTC p.L340F IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Missense_Mutation_p.L17F|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.L340F|IFFO1_uc001qpf.1_Missense_Mutation_p.L340F|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.L340F|IFFO1_uc001qpg.2_5'Flank NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 340 intermediate filament 0 ACATCGCAGAGCTTGGCGGTG 0.607 20 35 --- --- --- --- PASS PRB1 5542 broad.mit.edu 37 12 11507478 11507478 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:11507478C>T uc001qzw.1 - 2 112 c.75G>A c.(73-75)CAG>CAA p.Q25Q PRB1_uc001qzu.1_Silent_p.Q25Q|PRB1_uc001qzv.1_Silent_p.Q25Q NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 25 NLNEDVSQEESPSLIA -> SCVGFYSVFLFSLCPL (in Ref. 4; AAA36502). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GAGATTCTTCCTGGCTGACAT 0.428 62 137 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13716347 13716347 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:13716347G>A uc001rbt.2 - 13 4004 c.3825C>T c.(3823-3825)AAC>AAT p.N1275N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1275 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGTGGAGGCGTTTGACGTCA 0.582 23 80 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40699752 40699752 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:40699752G>A uc001rmg.3 + 28 4064 c.3943G>A c.(3943-3945)GCC>ACC p.A1315T LRRK2_uc009zjw.2_Missense_Mutation_p.A153T|LRRK2_uc001rmi.2_Missense_Mutation_p.A148T NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1315 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGGATGTAAAGCCAAAGACAT 0.294 26 71 --- --- --- --- PASS KRT81 3887 broad.mit.edu 37 12 52681782 52681782 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:52681782A>G uc001sab.2 - 5 936 c.886T>C c.(886-888)TGG>CGG p.W296R KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 296 Rod.|Coil 2. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) CTGCGGTACCAGGACTCGGCC 0.557 25 83 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53824031 53824031 + Missense_Mutation SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:53824031C>G uc001scx.1 + 10 1468 c.1390C>G c.(1390-1392)CCC>GCC p.P464A AMHR2_uc009zmy.1_Silent_p.V462V NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 464 Cytoplasmic (Potential).|Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) GAGGAGGCGTCCCTACATCCC 0.602 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 88 204 --- --- --- --- PASS RBMS2 5939 broad.mit.edu 37 12 56982752 56982752 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:56982752G>A uc001sln.2 + 13 1379 c.1180G>A c.(1180-1182)GCA>ACA p.A394T RBMS2_uc010sqp.1_Missense_Mutation_p.A249T|RBMS2_uc010sqq.1_Missense_Mutation_p.A269T|RBMS2_uc009zou.2_Missense_Mutation_p.R149H NM_002898 NP_002889 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting 394 RNA processing nucleus nucleotide binding|RNA binding 0 GGCAGTGGACGCACCCTCAGA 0.577 10 179 --- --- --- --- PASS MAP1LC3B2 643246 broad.mit.edu 37 12 117014012 117014012 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:117014012G>T uc009zwk.1 + 2 419 c.265G>T c.(265-267)GTC>TTC p.V89F NM_001085481 NP_001078950 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 89 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule 0 ACACAGCATGGTCAGCGTCTC 0.483 49 126 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129569169 129569169 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:129569169A>G uc009zyl.1 - 6 1850 c.1522T>C c.(1522-1524)TAC>CAC p.Y508H TMEM132D_uc001uia.2_Missense_Mutation_p.Y46H NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 508 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGGTGCTGGTAGGTGAAGTTC 0.537 14 70 --- --- --- --- PASS PUS1 80324 broad.mit.edu 37 12 132428116 132428116 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr12:132428116C>T uc001ujf.2 + 6 1748 c.1269C>T c.(1267-1269)GAC>GAT p.D423D PUS1_uc001ujg.2_Silent_p.D395D|PUS1_uc001ujh.2_Silent_p.D395D|PUS1_uc001uji.2_Silent_p.D370D NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 423 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) GTGAAGGGGACGGAGACACTG 0.602 36 114 --- --- --- --- PASS C13orf18 80183 broad.mit.edu 37 13 46930571 46930571 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr13:46930571C>A uc010acl.2 - 10 1931 c.1326G>T c.(1324-1326)GAG>GAT p.E442D C13orf18_uc001vbf.3_Missense_Mutation_p.E375D|C13orf18_uc001vbg.3_Missense_Mutation_p.E170D|C13orf18_uc010tfz.1_Missense_Mutation_p.E285D|C13orf18_uc010acm.2_Missense_Mutation_p.E307D|C13orf18_uc010acn.2_Missense_Mutation_p.E227D|C13orf18_uc001vbe.3_Missense_Mutation_p.E442D|C13orf18_uc001vbh.3_Missense_Mutation_p.E442D|C13orf18_uc001vbi.3_Missense_Mutation_p.E285D|C13orf18_uc010aco.1_Missense_Mutation_p.E442D NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 442 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) ACTTACTAGGCTCTACTGGAG 0.463 10 12 --- --- --- --- PASS SUCLA2 8803 broad.mit.edu 37 13 48563082 48563082 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr13:48563082T>A uc001vbs.2 - 3 363 c.306A>T c.(304-306)TTA>TTT p.L102F SUCLA2_uc010tgb.1_Missense_Mutation_p.L42F|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Missense_Mutation_p.L42F|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.L102F NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 102 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1) 1 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TACCACCAGCTAAAACCTGTG 0.368 11 198 --- --- --- --- PASS C13orf34 79866 broad.mit.edu 37 13 73321211 73321211 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr13:73321211G>A uc001viv.1 + 10 1563 c.1444G>A c.(1444-1446)GAA>AAA p.E482K C13orf34_uc010thq.1_Missense_Mutation_p.E257K|C13orf34_uc010aen.1_Missense_Mutation_p.E557K|C13orf34_uc010thr.1_Missense_Mutation_p.E412K|C13orf34_uc001viw.1_Missense_Mutation_p.E431K NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 482 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) ACCTCTTGCTGAAAGCAGTGT 0.403 151 156 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110822951 110822951 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr13:110822951G>T uc001vqw.3 - 42 3807 c.3685C>A c.(3685-3687)CAT>AAT p.H1229N COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1229 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCGTGGCATGGCCTGGGGAT 0.672 9 9 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111092145 111092145 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr13:111092145G>T uc001vqx.2 + 16 1211 c.922G>T c.(922-924)GGC>TGC p.G308C NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 308 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGTTACCCTGGCTTGAGTGG 0.478 70 61 --- --- --- --- PASS F7 2155 broad.mit.edu 37 13 113773143 113773143 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr13:113773143C>T uc001vsv.2 + 9 1273 c.1222C>T c.(1222-1224)CAT>TAT p.H408Y F7_uc001vsw.2_Missense_Mutation_p.H386Y|F7_uc010tjt.1_Missense_Mutation_p.H339Y NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 408 Peptidase S1. H -> Q (in FA7D).|H -> R (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TGGAGGCCCACATGCCACCCA 0.632 14 4 --- --- --- --- PASS ABHD4 63874 broad.mit.edu 37 14 23072983 23072983 + Nonsense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr14:23072983G>A uc001wgm.2 + 4 708 c.639G>A c.(637-639)TGG>TGA p.W213* ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Nonsense_Mutation_p.W213*|ABHD4_uc010tnb.1_Intron NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 213 lipid catabolic process hydrolase activity central_nervous_system(1) 1 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) CTGGGCCCTGGGGTGAGTAGC 0.522 22 38 --- --- --- --- PASS MTHFD1 4522 broad.mit.edu 37 14 64921543 64921543 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr14:64921543G>A uc001xhb.2 + 26 3055 c.2668G>A c.(2668-2670)GAC>AAC p.D890N MTHFD1_uc010aqf.2_Missense_Mutation_p.D946N|ZBTB25_uc001xhc.2_Intron NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 890 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GCCCATTCGCGACATCCGCGC 0.532 10 144 --- --- --- --- PASS SERPINA12 145264 broad.mit.edu 37 14 94964657 94964657 + Silent SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr14:94964657T>C uc001ydj.2 - 3 874 c.78A>G c.(76-78)TCA>TCG p.S26S NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 26 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) AATTCCTTGGTGAGAAGCTCG 0.483 83 84 --- --- --- --- PASS JAG2 3714 broad.mit.edu 37 14 105617415 105617415 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr14:105617415A>G uc001yqg.2 - 10 1698 c.1294T>C c.(1294-1296)TGC>CGC p.C432R JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Intron NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 432 Extracellular (Potential).|EGF-like 6; calcium-binding (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GCGTTAAGGCATGGCTTCCCT 0.582 6 5 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106791224 106791224 + RNA SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr14:106791224A>G uc010tyt.1 - 386 c.14394T>C Parts of antibodies, mostly variable regions. 0 AGGTGAATCCAGAGGCTGCAC 0.567 11 73 --- --- --- --- PASS PLCB2 5330 broad.mit.edu 37 15 40586508 40586508 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:40586508C>T uc001zld.2 - 19 2321 c.2020G>A c.(2020-2022)GAC>AAC p.D674N PLCB2_uc001zlc.2_5'Flank|PLCB2_uc010bbo.2_Missense_Mutation_p.D670N|PLCB2_uc010ucm.1_Missense_Mutation_p.D674N NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 674 C2. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCGATGCGGTCCACTGAGAAG 0.597 25 73 --- --- --- --- PASS SERINC4 619189 broad.mit.edu 37 15 44089090 44089090 + Missense_Mutation SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:44089090A>T uc010bds.1 - 4 629 c.161T>A c.(160-162)ATC>AAC p.I54N ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Missense_Mutation_p.I54N NM_001033517 NP_001028689 A6NH21 SERC4_HUMAN serine incorporator 4 298 Helical; (Potential). phospholipid biosynthetic process integral to membrane 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) CAGATACATGATATAGCAGCT 0.493 69 259 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49073427 49073427 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:49073427T>C uc001zwy.2 - 12 1577 c.1543A>G c.(1543-1545)AAA>GAA p.K515E CEP152_uc001zwz.2_Missense_Mutation_p.K515E|CEP152_uc001zxa.1_Missense_Mutation_p.K422E NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 515 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTGACCTTTTTAATACCCAAA 0.343 65 197 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49081013 49081013 + Silent SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:49081013G>C uc001zwy.2 - 9 1192 c.1158C>G c.(1156-1158)ACC>ACG p.T386T CEP152_uc001zwz.2_Silent_p.T386T|CEP152_uc001zxa.1_Silent_p.T293T NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 386 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTTTAAGTGCGGTGACTGTGG 0.378 104 415 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50544911 50544911 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:50544911C>T uc001zxz.2 - 8 954 c.848G>A c.(847-849)TGC>TAC p.C283Y HDC_uc001zxy.2_Missense_Mutation_p.C26Y|HDC_uc010uff.1_Missense_Mutation_p.C283Y NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 283 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GAACTCGGGGCACAGGAAGGC 0.562 11 52 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62266538 62266538 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:62266538C>A uc002agz.2 - 25 2561 c.2487G>T c.(2485-2487)ATG>ATT p.M829I VPS13C_uc002aha.2_Missense_Mutation_p.M786I|VPS13C_uc002ahb.1_Missense_Mutation_p.M829I|VPS13C_uc002ahc.1_Missense_Mutation_p.M786I NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 829 protein localization ovary(2) 2 GTATACTGTTCATCAAATATA 0.348 52 174 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79051768 79051768 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:79051768G>A uc002bej.3 - 24 5267 c.5056C>T c.(5056-5058)CGC>TGC p.R1686C NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1686 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CGCAGTCAGCGGCGGGCAACC 0.731 4 12 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85400801 85400801 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr15:85400801G>T uc002ble.2 + 6 3605 c.3438G>T c.(3436-3438)GGG>GGT p.G1146G NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1146 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGTGGAGGGGCGGACCCCAG 0.632 26 196 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2152898 2152898 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr16:2152898G>C uc002cos.1 - 24 9074 c.8865C>G c.(8863-8865)CAC>CAG p.H2955Q PKD1_uc002cot.1_Missense_Mutation_p.H2955Q|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2955 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCGAGCAGTTGTGCTCATTGG 0.642 6 140 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16208628 16208628 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr16:16208628G>A uc010bvi.2 + 23 3260 c.3085G>A c.(3085-3087)GCC>ACC p.A1029T ABCC1_uc010bvj.2_Missense_Mutation_p.A970T|ABCC1_uc010bvk.2_Missense_Mutation_p.A973T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1029T|ABCC1_uc010bvm.2_Missense_Mutation_p.A914T|ABCC1_uc002del.3_Missense_Mutation_p.A923T NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1029 ABC transmembrane type-1 2.|Helical; Name=13. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGCAGGGATCGCCGTGTTTGG 0.617 13 28 --- --- --- --- PASS MLKL 197259 broad.mit.edu 37 16 74709650 74709650 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr16:74709650C>T uc002fdb.2 - 8 1492 c.1051G>A c.(1051-1053)GAG>AAG p.E351K MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 351 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 TTCCTCAACTCAAATCCTGCA 0.438 6 137 --- --- --- --- PASS MAP1LC3B 81631 broad.mit.edu 37 16 87436590 87436590 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr16:87436590G>T uc002fjx.2 + 4 498 c.265G>T c.(265-267)GTC>TTC p.V89F MAP1LC3B_uc010chs.2_RNA NM_022818 NP_073729 Q9GZQ8 MLP3B_HUMAN microtubule-associated proteins 1A/1B light 89 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0249) ACACAGCATGGTCAGCGTCTC 0.458 6 75 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577550 7577550 + Missense_Mutation SNP C T T rs28934572 TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr17:7577550C>T uc002gim.2 - 7 925 c.731G>A c.(730-732)GGC>GAC p.G244D TP53_uc002gig.1_Missense_Mutation_p.G244D|TP53_uc002gih.2_Missense_Mutation_p.G244D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112D|TP53_uc010cng.1_Missense_Mutation_p.G112D|TP53_uc002gii.1_Missense_Mutation_p.G112D|TP53_uc010cnh.1_Missense_Mutation_p.G244D|TP53_uc010cni.1_Missense_Mutation_p.G244D|TP53_uc002gij.2_Missense_Mutation_p.G244D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151D|TP53_uc002gio.2_Missense_Mutation_p.G112D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 244 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G244S(35)|p.G244C(34)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTCATGCCGCCCATGCAGGA 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 35 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18022280 18022280 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr17:18022280G>A uc010vxh.1 + 2 504 c.166G>A c.(166-168)GCC>ACC p.A56T NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 56 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GTTCCGCAGCGCCTCGGCCTT 0.607 20 17 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 32483299 32483299 + Missense_Mutation SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr17:32483299C>G uc002hhu.2 - 1 527 c.253G>C c.(253-255)GTC>CTC p.V85L NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 85 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GCTGGGAAGACCAGGCTTTGA 0.582 30 53 --- --- --- --- PASS TMEM101 84336 broad.mit.edu 37 17 42089432 42089432 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr17:42089432G>A uc002ieu.2 - 4 663 c.638C>T c.(637-639)CCT>CTT p.P213L TMEM101_uc010wis.1_Missense_Mutation_p.P155L NM_032376 NP_115752 Q96IK0 TM101_HUMAN transmembrane protein 101 213 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) CAGCATGACAGGGGGCAGCAG 0.562 42 83 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48275825 48275825 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr17:48275825G>A uc002iqm.2 - 6 638 c.512C>T c.(511-513)TCA>TTA p.S171L NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 171 Nonhelical region (N-terminal). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) TCCTCCGGTTGATTTCTCATC 0.522 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta OREG0024560 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 25 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78282826 78282826 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr17:78282826A>G uc002jyf.2 + 14 2653 c.2510A>G c.(2509-2511)GAG>GGG p.E837G uc002jyg.1_Missense_Mutation_p.E568G NM_020954 NP_066005 hypothetical protein LOC57714 AGGATTCCCGAGGAGGCCTTG 0.478 49 144 --- --- --- --- PASS LRRC30 339291 broad.mit.edu 37 18 7231499 7231499 + Silent SNP C G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr18:7231499C>G uc010wzk.1 + 1 363 c.363C>G c.(361-363)GTC>GTG p.V121V NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 121 LRR 3. ovary(1)|liver(1) 2 GCCTCAAGGTCCTGTTTGTCA 0.602 25 56 --- --- --- --- PASS IMPACT 55364 broad.mit.edu 37 18 22007887 22007887 + Missense_Mutation SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr18:22007887A>C uc002kvh.3 + 2 153 c.41A>C c.(40-42)GAG>GCG p.E14A IMPACT_uc002kvg.3_5'UTR NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 14 RWD. 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) TTTCAGAATGAGGAAATTGAA 0.323 73 164 --- --- --- --- PASS CELF4 56853 broad.mit.edu 37 18 35145471 35145471 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr18:35145471G>A uc002lae.2 - 1 530 c.134C>T c.(133-135)ACC>ATC p.T45I CELF4_uc010dnd.1_Missense_Mutation_p.T45I|CELF4_uc002lag.2_Missense_Mutation_p.T45I|CELF4_uc002laf.2_Missense_Mutation_p.T41I|CELF4_uc002lai.2_Missense_Mutation_p.T41I NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 45 Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CATGGGAATGGTCGACGGGTT 0.612 22 54 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50731683 50731683 + Silent SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr18:50731683A>T uc002lfe.1 + 10 2258 c.1671A>T c.(1669-1671)CCA>CCT p.P557P DCC_uc010xdr.1_Silent_p.P405P|DCC_uc010dpf.1_Silent_p.P212P NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 557 Extracellular (Potential).|Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAAACGGTCCAGTCCAAGGTT 0.488 84 208 --- --- --- --- PASS SERPINB11 89778 broad.mit.edu 37 18 61390434 61390434 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr18:61390434A>G uc002ljk.3 + 9 1042 c.980A>G c.(979-981)TAT>TGT p.Y327C SERPINB11_uc010xes.1_Missense_Mutation_p.Y152C|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.Y213C|SERPINB11_uc010dqe.2_Missense_Mutation_p.Y126C|SERPINB11_uc010dqf.2_Missense_Mutation_p.Y125C NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 327 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) AAGGGCCTATATTTATCAAAA 0.478 19 39 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67816249 67816249 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr18:67816249G>C uc002lkp.2 - 17 2265 c.2197C>G c.(2197-2199)CTG>GTG p.L733V RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 733 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAGTTACCCAGAGGATCTTCT 0.368 62 133 --- --- --- --- PASS DOT1L 84444 broad.mit.edu 37 19 2210489 2210489 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:2210489G>T uc002lvb.3 + 13 1132 c.1096G>T c.(1096-1098)GGC>TGC p.G366C DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 366 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGGTGGCCGGCCCCGCCGA 0.736 8 17 --- --- --- --- PASS ZNF57 126295 broad.mit.edu 37 19 2917240 2917240 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:2917240T>A uc002lwr.2 + 4 769 c.621T>A c.(619-621)CAT>CAA p.H207Q ZNF57_uc010xha.1_Missense_Mutation_p.H175Q NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 207 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTCCAACATCCTCGTTACC 0.498 29 72 --- --- --- --- PASS TUBB4 10382 broad.mit.edu 37 19 6501604 6501604 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:6501604T>A uc002mfg.1 - 2 195 c.88A>T c.(88-90)ATC>TTC p.I30F TUBB4_uc002mff.1_5'UTR NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 30 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GTGGGGTCGATGCCATGTTCG 0.582 31 73 --- --- --- --- PASS RAVER1 125950 broad.mit.edu 37 19 10439562 10439562 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:10439562T>A uc002moa.2 - 3 643 c.563A>T c.(562-564)CAA>CTA p.Q188L NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 171 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GCCCTTGGATTGGCCAGTGCG 0.637 4 54 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10600447 10600447 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:10600447G>A uc002moq.1 - 4 1564 c.1408C>T c.(1408-1410)CGT>TGT p.R470C KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TAAAGGAGACGATTGAGGACA 0.557 21 39 --- --- --- --- PASS ZNF442 79973 broad.mit.edu 37 19 12461559 12461559 + Silent SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:12461559A>G uc002mtr.1 - 6 1451 c.840T>C c.(838-840)TAT>TAC p.Y280Y ZNF442_uc010xmk.1_Silent_p.Y211Y NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 280 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 CATGTCTTACATAGGAACTGT 0.398 141 246 --- --- --- --- PASS CCDC105 126402 broad.mit.edu 37 19 15131288 15131288 + Nonsense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:15131288C>T uc002nae.2 + 3 790 c.691C>T c.(691-693)CGA>TGA p.R231* NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 231 microtubule cytoskeleton organization microtubule ovary(1) 1 GGCCTCCTGCCGAGACACTCT 0.587 6 29 --- --- --- --- PASS ZNF101 94039 broad.mit.edu 37 19 19790295 19790295 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:19790295A>G uc002nni.1 + 4 607 c.497A>G c.(496-498)AAG>AGG p.K166R ZNF101_uc010ecg.1_Missense_Mutation_p.K46R|ZNF101_uc002nnj.1_Missense_Mutation_p.K46R NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CCAACTCGAAAGAGACCTTAT 0.468 59 162 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22362956 22362956 + Silent SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:22362956A>T uc002nqs.1 - 3 1881 c.1563T>A c.(1561-1563)ACT>ACA p.T521T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 521 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTTATGTTCAGTAAGGATCG 0.403 64 125 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22364342 22364342 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:22364342T>C uc002nqs.1 - 3 495 c.177A>G c.(175-177)ATA>ATG p.I59M NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAGAATCTTCTATGCCTTGCT 0.303 29 53 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544209 23544209 + Silent SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:23544209G>A uc002nre.2 - 4 1685 c.1572C>T c.(1570-1572)GGC>GGT p.G524G ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.G492G NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 524 C2H2-type 14; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAAAAGCTTTGCCACATTCTT 0.333 47 70 --- --- --- --- PASS CEACAM5 1048 broad.mit.edu 37 19 42219744 42219744 + Silent SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:42219744T>C uc002ork.2 + 4 1000 c.879T>C c.(877-879)AAT>AAC p.N293N CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Silent_p.N293N|CEACAM5_uc002orl.2_Silent_p.N293N NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 293 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CTGTGAATAATAGTGGATCCT 0.493 40 66 --- --- --- --- PASS CA11 770 broad.mit.edu 37 19 49143088 49143088 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:49143088G>A uc002pjz.1 - 5 1086 c.524C>T c.(523-525)TCC>TTC p.S175F SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 175 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) GGGGCCGCGGGAGGCAGCGCT 0.488 49 110 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53959049 53959049 + Nonsense_Mutation SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:53959049A>T uc010eqp.2 + 7 1746 c.1288A>T c.(1288-1290)AAA>TAA p.K430* ZNF761_uc010ydy.1_Nonsense_Mutation_p.K376*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.K376* NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 430 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AATACATCGGAAAATTCATAC 0.393 22 167 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56443409 56443409 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:56443409T>C uc010ygg.1 - 1 294 c.269A>G c.(268-270)CAG>CGG p.Q90R NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 90 DAPIN. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATTCATTGTCTGGAAGATGCC 0.507 11 139 --- --- --- --- PASS ZNF460 10794 broad.mit.edu 37 19 57802555 57802555 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:57802555A>G uc002qog.2 + 3 968 c.646A>G c.(646-648)ATC>GTC p.I216V ZNF460_uc010ygv.1_Missense_Mutation_p.I175V NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 216 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAGCATCACATCATCCATAC 0.527 45 110 --- --- --- --- PASS ZNF543 125919 broad.mit.edu 37 19 57839516 57839516 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr19:57839516G>T uc002qoi.1 + 4 1031 c.686G>T c.(685-687)TGC>TTC p.C229F NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 229 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCCTATGAATGCACAGAGTGT 0.448 48 89 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5904465 5904465 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr20:5904465G>A uc002wmg.2 + 4 1981 c.1675G>A c.(1675-1677)GAG>AAG p.E559K CHGB_uc010zqz.1_Missense_Mutation_p.E242K NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 559 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GACCTTGAACGAGAAGAATTT 0.468 28 71 --- --- --- --- PASS SPTLC3 55304 broad.mit.edu 37 20 13074196 13074196 + Silent SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr20:13074196T>C uc002wod.1 + 6 1087 c.798T>C c.(796-798)GGT>GGC p.G266G NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 266 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) GACTCTCAGGTGCAACCATAA 0.418 30 107 --- --- --- --- PASS SEMG1 6406 broad.mit.edu 37 20 43836328 43836328 + Silent SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr20:43836328T>C uc002xni.2 + 2 447 c.390T>C c.(388-390)CAT>CAC p.H130H SEMG1_uc002xnj.2_Silent_p.H130H|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.H130H NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 130 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TTATACACCATAAAGGAGGCA 0.413 31 89 --- --- --- --- PASS MC3R 4159 broad.mit.edu 37 20 54824588 54824588 + Missense_Mutation SNP T C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr20:54824588T>C uc002xxb.2 + 1 801 c.689T>C c.(688-690)GTG>GCG p.V230A NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 267 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) GCCGACGGGGTGGCCCCACAG 0.607 21 83 --- --- --- --- PASS PCK1 5105 broad.mit.edu 37 20 56138687 56138687 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr20:56138687G>T uc002xyn.3 + 6 1028 c.865G>T c.(865-867)GGG>TGG p.G289W PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 289 GTP. gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CAGCGCCTGCGGGAAGACCAA 0.547 54 101 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19744574 19744574 + Silent SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr21:19744574A>T uc002ykw.2 - 6 631 c.600T>A c.(598-600)GCT>GCA p.A200A NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 200 Extracellular (Potential).|LDL-receptor class A 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AAAATAAATCAGCTTTTATAC 0.378 42 80 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34925604 34925604 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr21:34925604C>T uc002yse.1 + 3 4116 c.4067C>T c.(4066-4068)GCT>GTT p.A1356V SON_uc002ysb.1_Missense_Mutation_p.A1356V|SON_uc002ysc.2_Missense_Mutation_p.A1356V|SON_uc002ysd.2_Missense_Mutation_p.A347V|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.A347V NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1356 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GAGTCTTCAGCTATGGCTGTC 0.552 17 28 --- --- --- --- PASS SGSM1 129049 broad.mit.edu 37 22 25275485 25275485 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr22:25275485T>A uc003abg.2 + 15 1809 c.1652T>A c.(1651-1653)TTC>TAC p.F551Y SGSM1_uc003abh.2_Missense_Mutation_p.F551Y|SGSM1_uc010guu.1_Missense_Mutation_p.F496Y|SGSM1_uc003abj.2_Missense_Mutation_p.F496Y|SGSM1_uc003abi.1_Missense_Mutation_p.F471Y NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 551 Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 TCCAGAGCCTTCTATGGATGT 0.453 14 39 --- --- --- --- PASS HSCB 150274 broad.mit.edu 37 22 29138228 29138228 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr22:29138228G>C uc003aea.2 + 1 186 c.145G>C c.(145-147)GGC>CGC p.G49R CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN J-type co-chaperone HSC20 precursor 49 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1) 1 CGGCCCATGGGGCCCCGGGCG 0.647 43 62 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46655253 46655253 + Missense_Mutation SNP G A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr22:46655253G>A uc003bhh.2 - 1 3967 c.3967C>T c.(3967-3969)CAC>TAC p.H1323Y NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1323 Cytoplasmic (Potential).|PLAT. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGCCAAATGTGCCTGCTAAAC 0.453 61 135 --- --- --- --- PASS SFRS17A 8227 broad.mit.edu 37 X 1714314 1714314 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:1714314C>T uc004cqa.2 + 3 996 c.800C>T c.(799-801)TCA>TTA p.S267L SFRS17A_uc010ncx.1_Missense_Mutation_p.S267L|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 267 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGTGATGCCTCAATTAAGAAG 0.517 84 219 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17745563 17745563 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:17745563C>T uc004cxx.2 + 6 3612 c.3274C>T c.(3274-3276)CAT>TAT p.H1092Y NHS_uc011mix.1_Missense_Mutation_p.H1113Y|NHS_uc004cxy.2_Missense_Mutation_p.H936Y|NHS_uc004cxz.2_Missense_Mutation_p.H915Y|NHS_uc004cya.2_Missense_Mutation_p.H815Y NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1092 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) TGTTTTTACTCATAATAAGCA 0.423 106 255 --- --- --- --- PASS CDKL5 6792 broad.mit.edu 37 X 18671607 18671607 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:18671607G>T uc004cym.2 + 21 3289 c.3036G>T c.(3034-3036)CAG>CAT p.Q1012H CDKL5_uc004cyn.2_Missense_Mutation_p.Q1012H|RS1_uc004cyo.2_Intron NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 1012 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) ACAGGGCCCAGGTAAACCAAG 0.567 12 61 --- --- --- --- PASS CDKL5 6792 broad.mit.edu 37 X 18671608 18671608 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:18671608G>T uc004cym.2 + 21 3290 c.3037G>T c.(3037-3039)GTA>TTA p.V1013L CDKL5_uc004cyn.2_Missense_Mutation_p.V1013L|RS1_uc004cyo.2_Intron NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 1013 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) CAGGGCCCAGGTAAACCAAGC 0.567 12 62 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29938132 29938132 + Missense_Mutation SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:29938132A>C uc004dby.2 + 8 1486 c.978A>C c.(976-978)GAA>GAC p.E326D NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 326 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CTGTGGAAGAAGGTGACTTGG 0.408 78 171 --- --- --- --- PASS PHF16 9767 broad.mit.edu 37 X 46893157 46893157 + Missense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:46893157G>T uc004dgx.2 + 7 873 c.822G>T c.(820-822)TGG>TGT p.W274C PHF16_uc004dgy.2_Missense_Mutation_p.W274C NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 274 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 GGACTAAATGGGCTCATGTCA 0.542 7 15 --- --- --- --- PASS PPP1R3F 89801 broad.mit.edu 37 X 49142924 49142924 + Missense_Mutation SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:49142924A>C uc004dnh.1 + 4 1788 c.1772A>C c.(1771-1773)GAA>GCA p.E591A PPP1R3F_uc011mnd.1_Missense_Mutation_p.E262A|PPP1R3F_uc004dni.2_Missense_Mutation_p.E245A|PPP1R3F_uc004dnj.1_Missense_Mutation_p.E245A NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 591 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) TCCAGCCCAGAAGGGGACAGC 0.637 20 47 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53573708 53573708 + Missense_Mutation SNP A T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:53573708A>T uc004dsp.2 - 69 11117 c.10715T>A c.(10714-10716)GTG>GAG p.V3572E HUWE1_uc004dsn.2_Missense_Mutation_p.V2380E|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3572 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GCCAGAGGACACCATCTTAAA 0.493 10 48 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53596671 53596671 + Silent SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:53596671C>A uc004dsp.2 - 48 6831 c.6429G>T c.(6427-6429)GGG>GGT p.G2143G HUWE1_uc004dsn.2_Silent_p.G967G NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2143 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CTGTGCCACTCCCTGCAGCAG 0.572 34 139 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54321216 54321216 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:54321216A>G uc004dtd.1 - 8 1902 c.1463T>C c.(1462-1464)GTG>GCG p.V488A WNK3_uc004dtc.1_Missense_Mutation_p.V488A NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 488 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TATTGGCGTCACCCGGTCTCT 0.438 25 86 --- --- --- --- PASS ARHGEF9 23229 broad.mit.edu 37 X 62885773 62885773 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:62885773C>A uc004dvl.2 - 7 1888 c.1049G>T c.(1048-1050)TGC>TTC p.C350F ARHGEF9_uc004dvj.1_Missense_Mutation_p.C239F|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Missense_Mutation_p.C329F|ARHGEF9_uc004dvm.1_Missense_Mutation_p.C329F|ARHGEF9_uc011mot.1_Missense_Mutation_p.C297F|ARHGEF9_uc004dvn.2_Missense_Mutation_p.C357F NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 350 PH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 TACCTTCTTGCAGAGGACCAT 0.587 11 38 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65408293 65408293 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:65408293C>A uc011moz.1 + 5 787 c.727C>A c.(727-729)CAT>AAT p.H243N HEPH_uc004dwn.2_Missense_Mutation_p.H243N|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.H243N|HEPH_uc011mpa.1_Missense_Mutation_p.H243N NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 240 Extracellular (Potential).|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CCTCAGCTGGCATCTCAATGA 0.502 12 28 --- --- --- --- PASS FOXO4 4303 broad.mit.edu 37 X 70321032 70321032 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:70321032C>T uc004dys.1 + 2 1305 c.952C>T c.(952-954)CTG>TTG p.L318L FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.L263L NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 318 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) TTCCCATTCCCTGCTATCTCG 0.552 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 143 --- --- --- --- PASS IL2RG 3561 broad.mit.edu 37 X 70328447 70328447 + Splice_Site SNP A C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:70328447A>C uc004dyw.1 - 6 868 c.854_splice c.e6+1 p.R285_splice CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Intron|IL2RG_uc004dyx.1_Splice_Site_p.R95_splice NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TCCAAATCTCACCGTTCCAGC 0.463 Severe_Combined_Immunodeficiency_X-linked 6 13 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70351922 70351922 + Splice_Site SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:70351922G>T uc004dyy.2 + 30 4319 c.4120_splice c.e30-1 p.E1374_splice MED12_uc011mpq.1_Splice_Site_p.E1374_splice|MED12_uc004dyz.2_Splice_Site_p.E1374_splice|MED12_uc004dza.2_Splice_Site_p.E1221_splice|MED12_uc010nla.2_Intron NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) ATCCTCCCCAGGAGATGAACT 0.498 32 112 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70351923 70351923 + Nonsense_Mutation SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:70351923G>T uc004dyy.2 + 30 4319 c.4120G>T c.(4120-4122)GAG>TAG p.E1374* MED12_uc011mpq.1_Nonsense_Mutation_p.E1374*|MED12_uc004dyz.2_Nonsense_Mutation_p.E1374*|MED12_uc004dza.2_Nonsense_Mutation_p.E1221*|MED12_uc010nla.2_Intron NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1374 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TCCTCCCCAGGAGATGAACTC 0.493 31 110 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79978075 79978075 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:79978075C>A uc004edt.2 - 17 2125 c.1862G>T c.(1861-1863)GGA>GTA p.G621V BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.G217V|BRWD3_uc004edp.2_Missense_Mutation_p.G450V|BRWD3_uc004edq.2_Missense_Mutation_p.G217V|BRWD3_uc010nmj.1_Missense_Mutation_p.G217V|BRWD3_uc004edr.2_Missense_Mutation_p.G291V|BRWD3_uc004eds.2_Missense_Mutation_p.G217V|BRWD3_uc004edu.2_Missense_Mutation_p.G291V|BRWD3_uc004edv.2_Missense_Mutation_p.G217V|BRWD3_uc004edw.2_Missense_Mutation_p.G217V|BRWD3_uc004edx.2_Missense_Mutation_p.G217V|BRWD3_uc004edy.2_Missense_Mutation_p.G217V|BRWD3_uc004edz.2_Missense_Mutation_p.G291V|BRWD3_uc004eea.2_Missense_Mutation_p.G291V|BRWD3_uc004eeb.2_Missense_Mutation_p.G217V NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 621 ovary(4) 4 AGCCACATATCCCAGCTGTGG 0.383 51 169 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79999534 79999534 + Silent SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:79999534T>A uc004edt.2 - 8 1073 c.810A>T c.(808-810)ATA>ATT p.I270I BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Silent_p.I99I|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 270 WD 4. ovary(4) 4 TTCTTACCTGTATGGAAGTAA 0.378 50 157 --- --- --- --- PASS CPXCR1 53336 broad.mit.edu 37 X 88008902 88008902 + Nonsense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:88008902C>T uc004efd.3 + 3 746 c.487C>T c.(487-489)CAG>TAG p.Q163* CPXCR1_uc004efc.3_Nonsense_Mutation_p.Q163* NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 163 intracellular zinc ion binding ovary(3) 3 ATATTTCTCTCAGGCTGCAGG 0.388 32 119 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91131779 91131779 + Splice_Site SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:91131779G>T uc004efk.1 + 2 1386 c.541_splice c.e2-1 p.S181_splice PCDH11X_uc004efl.1_Splice_Site_p.S181_splice|PCDH11X_uc004efo.1_Splice_Site_p.S181_splice|PCDH11X_uc010nmv.1_Splice_Site_p.S181_splice|PCDH11X_uc004efm.1_Splice_Site_p.S181_splice|PCDH11X_uc004efn.1_Splice_Site_p.S181_splice|PCDH11X_uc004efh.1_Splice_Site_p.S181_splice|PCDH11X_uc004efj.1_Splice_Site_p.S181_splice NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATGTTTTCCAGAGTCAAAACA 0.274 27 104 --- --- --- --- PASS ARMCX2 9823 broad.mit.edu 37 X 100912250 100912250 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:100912250T>A uc004eid.2 - 3 680 c.325A>T c.(325-327)AGT>TGT p.S109C ARMCX2_uc004eie.3_Missense_Mutation_p.S109C|ARMCX2_uc004eif.3_Missense_Mutation_p.S109C|ARMCX2_uc004eig.3_Missense_Mutation_p.S109C|ARMCX2_uc010nnt.2_Missense_Mutation_p.S109C NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 109 Ala-rich. integral to membrane binding ovary(6) 6 CCTGCCCCACTCTGAGCCTCA 0.627 96 99 --- --- --- --- PASS COL4A5 1287 broad.mit.edu 37 X 107869498 107869498 + Silent SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:107869498C>T uc004enz.1 + 36 3367 c.3165C>T c.(3163-3165)TCC>TCT p.S1055S COL4A5_uc011mso.1_Silent_p.S1055S|COL4A5_uc004eob.1_Silent_p.S663S NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1055 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 AACCTGGCTCCCCAGGATTAC 0.458 Alport_syndrome_with_Diffuse_Leiomyomatosis 36 232 --- --- --- --- PASS AMMECR1 9949 broad.mit.edu 37 X 109444273 109444273 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:109444273C>T uc004eoo.2 - 5 877 c.796G>A c.(796-798)GAC>AAC p.D266N AMMECR1_uc004eop.2_Missense_Mutation_p.D229N|AMMECR1_uc004eoq.2_Missense_Mutation_p.D143N NM_015365 NP_056180 Q9Y4X0 AMER1_HUMAN AMMECR1 protein isoform 1 266 AMMECR1. 0 TGTATATGGTCCCATCCTGTA 0.378 81 258 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694824 109694824 + Missense_Mutation SNP G C C TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:109694824G>C uc004eor.1 + 3 1225 c.979G>C c.(979-981)GTC>CTC p.V327L RGAG1_uc011msr.1_Missense_Mutation_p.V327L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 327 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCTACTGTCAGTCCCAGATGC 0.498 206 630 --- --- --- --- PASS ALG13 79868 broad.mit.edu 37 X 111002983 111002983 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:111002983C>A uc011msy.1 + 27 3204 c.3170C>A c.(3169-3171)TCT>TAT p.S1057Y ALG13_uc011msx.1_Missense_Mutation_p.S874Y|ALG13_uc011msz.1_Missense_Mutation_p.S979Y|ALG13_uc011mta.1_Missense_Mutation_p.S874Y|ALG13_uc011mtb.1_Missense_Mutation_p.S874Y Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 1057 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 AATGCTGATTCTTCATCTGTC 0.423 11 43 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111025340 111025340 + Silent SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:111025340A>G uc004epl.1 - 8 2842 c.1923T>C c.(1921-1923)TTT>TTC p.F641F TRPC5_uc004epm.1_Silent_p.F641F NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 641 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TCGTCCTTGCAAACTTCCACT 0.428 48 211 --- --- --- --- PASS LRCH2 57631 broad.mit.edu 37 X 114422790 114422790 + Missense_Mutation SNP T A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:114422790T>A uc010nqe.2 - 2 524 c.493A>T c.(493-495)AGC>TGC p.S165C LRCH2_uc004epz.2_Missense_Mutation_p.S165C|RBMXL3_uc011mte.1_5'Flank NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) 165 LRR 4. ovary(1) 1 TTTCCTTACCTAATGTTAAGG 0.284 4 22 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123615730 123615730 + Silent SNP G T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:123615730G>T uc004euj.2 - 21 3844 c.3780C>A c.(3778-3780)GTC>GTA p.V1260V ODZ1_uc011muj.1_Silent_p.V1266V|ODZ1_uc010nqy.2_Silent_p.V1267V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1260 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCAACTTGTAGACTTTGCGAG 0.438 152 223 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128722228 128722228 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:128722228C>A uc004euq.2 + 21 2494 c.2329C>A c.(2329-2331)CCT>ACT p.P777T OCRL_uc004eur.2_Missense_Mutation_p.P769T|OCRL_uc010nrb.2_5'Flank NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 777 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TACCAGCATTCCTGAGACAAT 0.443 40 143 --- --- --- --- PASS IGSF1 3547 broad.mit.edu 37 X 130419191 130419191 + Nonsense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:130419191C>T uc004ewd.2 - 5 867 c.629G>A c.(628-630)TGG>TAG p.W210* IGSF1_uc004ewe.3_Nonsense_Mutation_p.W199*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W190*|IGSF1_uc004ewg.2_Nonsense_Mutation_p.W210* NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 210 Ig-like C2-type 2.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GGGCTCTGACCACAGGGTGGG 0.552 37 168 --- --- --- --- PASS SLC9A6 10479 broad.mit.edu 37 X 135067759 135067759 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:135067759C>T uc004ezj.2 + 1 174 c.98C>T c.(97-99)GCA>GTA p.A33V SLC9A6_uc004ezk.2_Missense_Mutation_p.A33V|SLC9A6_uc011mvx.1_Intron NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 33 Helical; (Potential). regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTGCTCCTCGCAGTGGGCGTC 0.711 20 57 --- --- --- --- PASS BCAP31 10134 broad.mit.edu 37 X 152986426 152986426 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:152986426A>G uc011myz.1 - 3 250 c.94T>C c.(94-96)TGG>CGG p.W32R BCAP31_uc011myy.1_5'UTR|BCAP31_uc004fid.2_Missense_Mutation_p.W99R|BCAP31_uc011mza.1_Missense_Mutation_p.W32R|BCAP31_uc004fie.2_Missense_Mutation_p.W32R NM_001139441 NP_001132913 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 isoform b 32 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCTTCTGCCATCTGTGAAGA 0.473 36 46 --- --- --- --- PASS ABCD1 215 broad.mit.edu 37 X 152991559 152991559 + Missense_Mutation SNP C A A TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:152991559C>A uc004fif.2 + 1 1237 c.838C>A c.(838-840)CGC>AGC p.R280S BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 280 ABC transmembrane type-1. R -> C (in X-ALD). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGGAGCTGCGCTACATGCA 0.692 8 16 --- --- --- --- PASS ABCD1 215 broad.mit.edu 37 X 153005583 153005583 + Missense_Mutation SNP A G G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:153005583A>G uc004fif.2 + 6 1925 c.1526A>G c.(1525-1527)AAT>AGT p.N509S ABCD1_uc004fig.2_Missense_Mutation_p.N9S NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 509 ATP (By similarity).|ABC transporter. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACAGGCCCCAATGGCTGCGGC 0.647 44 181 --- --- --- --- PASS NAA10 8260 broad.mit.edu 37 X 153195637 153195637 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:153195637C>T uc004fjm.1 - 8 622 c.511G>A c.(511-513)GTG>ATG p.V171M NAA10_uc004fjn.1_Missense_Mutation_p.V156M NM_003491 NP_003482 P41227 NAA10_HUMAN alpha-N-acetyltransferase 1A 171 DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1) 1 CCCAGCACCACGTGCCTGCCC 0.617 52 215 --- --- --- --- PASS IRAK1 3654 broad.mit.edu 37 X 153279714 153279714 + Missense_Mutation SNP C T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chrX:153279714C>T uc004fjs.1 - 11 1397 c.1318G>A c.(1318-1320)GAG>AAG p.E440K IRAK1_uc004fjr.1_Missense_Mutation_p.E440K|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.E466K NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 440 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCAGCCTCCTCTTCCACCAGG 0.567 112 151 --- --- --- --- PASS CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA - - TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr1:85039999_85040007delGCAGCGCCA uc001dka.2 - 1 157_165 c.92_100delTGGCGCTGC c.(91-102)CTGGCGCTGCGG>CGG p.LAL31del CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR NM_004388 NP_004379 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- precursor 31_33 lysosome cation binding 0 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.589 9 4 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1626678 1626678 + Frame_Shift_Del DEL C - - TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:1626678delC uc003wpl.2 + 9 2444 c.2347delC c.(2347-2349)CCGfs p.P783fs DLGAP2_uc003wpm.2_Frame_Shift_Del_p.P769fs NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 862 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGGATGTCTCCGTGCCGCAG 0.597 10 7 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61655401 61655402 + Frame_Shift_Ins INS - T T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr8:61655401_61655402insT uc003xue.2 + 2 1887_1888 c.1410_1411insT c.(1408-1413)GAATTGfs p.E470fs NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 470_471 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CACCAAGGGAATTGACTGGGCA 0.550 28 14 --- --- --- --- KHNYN 23351 broad.mit.edu 37 14 24901672 24901674 + In_Frame_Del DEL GAG - - TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx faecb1fe-b4ef-434d-818c-81ad2167dd25 3f0dd66e-22ec-4bf8-aa0f-17b8134055be g.chr14:24901672_24901674delGAG uc001wph.3 + 3 1407_1409 c.1205_1207delGAG c.(1204-1209)CGAGGC>CGC p.G403del KHNYN_uc010tpc.1_In_Frame_Del_p.G444del|KHNYN_uc010alw.2_In_Frame_Del_p.G403del|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 403 ovary(2)|liver(1) 3 CAATGGAAACGAGGCGCCCGAGG 0.655 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 12 --- --- --- ---